Coarse face, microcephaly, mental retardation, and
Only two sibs have been
described. Inheritance was suspected to be autosomal recessive.
Brother and sister presented with microcephaly,
mental retardation, and epilepsy, which was refractory to medical treatment
in the brother, but was sufficiently controlled in the sister. In addition,
both individuals had hirsutism, a coarse face, scoliosis, and a retarded
Preanesthetic and postanesthetic
management may be challenging because of an increased level of anxiety with
mental retardation. Antiepileptic therapy may require preoperative
adjustment, and drug interactions are common with certain antiseizure drugs.
Severe scoliosis has its own anesthetic implications (difficult tracheal
intubation, restrictive airway disease, cor pulmonale), which may require
Battaglia A, Ferrari A, Orsitto E, et al: New autosomal recessive
syndrome of mental retardation, coarse face, microcephaly and skeletal
abnormalities. Clin Dysmorphol